ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4973del (p.Asn1658fs)

dbSNP: rs1588511533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002481841 SCV002790725 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-02-17 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029895 SCV001192686 likely pathogenic Imerslund-Grasbeck syndrome 2019-03-21 no assertion criteria provided clinical testing

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